Structural and functional phenotypic features and molecular analysis of Indian patients with Bietti crystalline dystrophy

Purpose: Bietti crystalline dystrophy (BCD) is a rare retinal dystrophy, uncommon in Indians. This study describes the various phenotypic features seen in the Indian population. Methods: In this retrospective, descriptive case series, records of patients with either clinical or molecular diagnosis of BCD from 2009 to 2020 were perused. Phenotypic and genotype information was collected and analyzed. Results: This study included 58 patients of BCD (31 males) aged 21–79 years (mean: 47 ± 14 years). The age at onset ranged from 7 to 41 years (mean: 28.8 ± 5.1 years). Vision ranged from 20/20 to counting fingers. There were 18 (31%) patients with stage 1 with crystals and mild retinochoroidal atrophy, 22 (38%) with stage 2 with atrophy extending beyond arcades, and 18 (31%) with absent crystals and extensive atrophy of stage 3. Choroidal neovascular membrane was seen in four patients. The optical coherence tomography showed retinochoroidal thinning (84.6%), outer retinal tubulations (71.8%), and paradoxical foveal thickening with interlaminar bridges (7.7%). Electrophysiology and visual fields showed reduced responses in advanced retinochoroidal changes. Molecular confirmation was available in five patients; five mutations were seen in the CYP4V2. Conclusion: A wide variation is seen in the phenotypic picture of BCD. A molecular diagnosis is helpful in differentiating from other retinal dystrophies. The OCT shows the peculiar feature of the interlaminar bridge in early cases with photoreceptor loss. Further investigations into this OCT feature may provide insights into the pathogenesis of BCD. A genotype–phenotype correlation could not be done.

Atrofia coroidea relacionada con la edad en pacientes hispanos: serie de casos / Age-related choroidal atrophy in hispanics patients: a case series

Propósito: describir los hallazgos y la medición del grosor coroideo subfoveal utilizando tomografía óptica coherente de imagen de profundidad mejorada (EDI OCT), en paciente hispanos con sospecha clínica de atrofia coroidea relacionada con la edad (ARCA). Métodos: estudio descriptivo y trasversal en 17 pacientes con impresión clínica de ARCA, basados en: disminución de la agudeza visual de reciente aparición, alteraciones pigmentarias en la macula, apariencia de fondo de ojo atigrado y atrofia peripapilar a pesar de no ser miope. A todos se les realizó examen oftalmológico completo, que incluía: Agudeza visual mejor corregida (BCVA), biomicroscopía con lámpara de hendidura y evaluación del fondo de ojo bajo dilatación. A estos pacientes se les realizó fotografía digital del fondo de ojo y tomografía óptica coherente de imagen de profundidad mejorada (EDI OCT). Se realizó un total de 5 mediciones del grosor coroideo en el área macular en cada ojo. Resultados: se evaluaron 26 ojos de 14 pacientes, con una edad media de 70,86 años (DS± 8,46 años). El 57.14% fueron mujeres y el 42.86% hombres. El promedio de la agudeza visual fue 20/47 (0,38 LogMAR), el 80.2% presentaron manifestación binocular. La media del grosor coroideo fue 119,53 µm (DS±49,68µm). No hubo correlación estadísticamente signifi cativa entre la BCVA y grosor coroideo (P=0.407). Conclusión: la atrofia coroidea relacionada con la edad es una condición que puede presentarse en pacientes hispanos de edad avanzada. Afecta igualmente a hombres y mujeres, es usualmente bilateral y el grado de adelgazamiento de la coroides no predice la agudeza visual final.

Purpose: to describe the findings and measure the subfoveal choroidal thickness with Enhanced Depth Imaging (EDI) OCT in hispanics subjects with clinical impression of age-related choroidal atrophy (ARCA). Methods: a descriptive and cross-sectional study of 17 subjects with clinical impression of ARCA: based on recently decreased visual acuity, pigmentary alterations in the macula, a tessellated fundoscopic appearance, and peripapillary atrophy despite being not myopic. All patients had a comprehensive ocular examination, including BCVA, biomicroscopic and fundus examination. They underwent color fundus photography and EDI OCT. A total of 5 measurements were took of each eye. Results: twenty six eyes were included from 14 patients, with a mean age 70,86 years (SD ± 8,46 years). The 57,14% were female and 42.86% male. The mean visual acuity was 20/47 (0,38 LogMAR Equivalent), 80.2% had bilateral disease. The mean choroidal thickness was 119,53 µm (SD ± 49,68 µm). There was no statistically significant correlation between BCVA and choroidal thickness (p =0,407). Conclusions: the ARCA is a condition that can be present in elderly Hispanics subjects. Affects equally male and female, it is usually bilateral and the degree of choroidal thinning does not predict the final visual acuity.